hrp0092p2-7 | Adrenals and HPA Axis | ESPE2019

Updates on Genotype and Phenotype of Vietnamese Patients with X-Linked Adrenoleukodystrophy

Nguyen Thu Ha , Dung Vu Chi , Nguyen Ngoc Khanh , Thao Bui Phuong , Mai Do Thi Thanh

Background: The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28. This disease is characterized by progressive neurologic dysfunction, and occasionally associated with adrenal insufficiency. The estimated frequency is about 1:42000 in male, whereas the estimated frequency for heterozygous women is 1:14000. There was no correlation between genotype and phenotype of X-ALD patients....

hrp0092p2-133 | Fat, Metabolism and Obesity | ESPE2019

Primary Hyperlipidemia in Children: Experience of 11 years from a Referral Center in Vietnam

Mai Do Thi Thanh , Khanh Nguyen Ngoc , Dung Vu Chi , Phuong Thao Bui , Thi Bich Ngoc Can

Primary hyperlipidemia is a group of diseases caused by genetic defects involved in the synthesis, transport and metabolism of lipoproteins.Objectives: our aim is to describe the clinical, biochemistry and imagine characteristics of primary hyperlipidemia and to review outcome of management for patients with primary hyperlipidemia.Subjects and Methods: this is case series study including 59 patient...

hrp0089p3-p269 | Multisystem Endocrine Disorders P3 | ESPE2018

Graves’ Disease in Children with T1DM: A Report of Three Cases

Ngoc Can Thi Bich , Dung Vu Chi , Thao Bui Phuong , Khanh Nguyen Ngoc , Ha Nguyen Thu , Dat Nguyen Phu

Objectives: Type one diabetes mellitus (T1DM) is an autoimmune disorder that is yet the most common type of diabetes in children and adolescents. Therefore, children and adolescents with T1DM are at increased risk for developing other autoimmune diseases including Graves’ disease. Detection of thyroid abnormalities in children is crucial since thyroid dysfunction can affect growth, pubertal maturation, insulin metabolism and gastrointestinal function. Herein, we reported ...

hrp0092p3-141 | GH and IGFs | ESPE2019

Treatment Outcome of Growth Hormone in Turner Syndrome Children

Thao Bui Phuong , Dung Vu Chi , Nhu Hoa Pham Thi , Khanh Nguyen Ngoc , Bich Ngoc Can Thi , Mai Do Thi Thanh , Ha Nguyen Thu

Background: Turner syndrome (TS) patients frequently have short stature. Females adults with TS are usually 20 cm shorter than normal females. Growth hormone (GH) can improve final height in TS patients.Objective: To evaluate GH therapy for children with Turner syndrome in term of efficacy and side effectPatient and Method: This serial cases study was done in TS patients in a perio...

hrp0089p3-p175 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Neonatal Diabetes Mellitus in Vietnam National Children Hospital

Ngoc Can Thi Bich , Dung Vu Chi , Thao Bui Phuong , Khanh Nguyen Ngoc , Mai Do Thi Thanh , Ellard Sian , Jayne Houghton , Flanagan Sarah , Mackay Deborah , Hoan Nguyen Thi

Introduction: Neonatal diabetes mellitus (NDM) is a rare (1:300,000–400,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Two main groups have been recognized, transient NDM (TNDM) and permanent NDM (PNDM).Objective: To describle clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.Subject and method...